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GRCh37/hg19 3q25.2-25.31(chr3:154548410-155021779)x1 AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001535438.1

Allele description [Variation Report for GRCh37/hg19 3q25.2-25.31(chr3:154548410-155021779)x1]

GRCh37/hg19 3q25.2-25.31(chr3:154548410-155021779)x1

Gene:
MME:membrane metalloendopeptidase [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
3q25.2-25.31
Genomic location:
Chr3: 154548410 - 155021779 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 3q25.2-25.31(chr3:154548410-155021779)x1
HGVS:
NC_000003.11:g.(?_154548410)_(155021779_?)del

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001749343GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV001749343.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 03-15-2017 by Victorian Clinical Genetics Services, Cytogenetics laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022